Mild dehydrated hereditary stomatocytosis revealed by marked hepatosiderosis
- 7 April 2006
- journal article
- case report
- Published by Wiley in Clinical and Laboratory Haematology
- Vol. 28 (4), 270-274
- https://doi.org/10.1111/j.1365-2257.2006.00774.x
Abstract
We report a patient in whom hepatosiderosis was diagnosed at the age of 55 years and who has since been treated by regular bleeding. The H63D mutation was found in the heterozygous state in the HFE gene. No mutation was recorded in the SLC11A3 gene (ferroportin). Hepatosiderosis did not seem primary, nevertheless its cause long remained elusive. Only 2 years ago did we find the responsible condition, a very mildly expressed form of dehydrated hereditary stomatocytosis (DHS). This genetic disease is a strongly iron‐loading condition. Haemolysis was fully compensated. Kalaemia was slightly elevated, suggesting a pseudohyperkalaemia that may be associated with DHS. Osmotic gradient ektacytometry allowed to assess the diagnosis of DHS. The red cell monovalent Na+ and K+ concentrations were moderately elevated and reduced respectively. The temperature dependence of the ouabain + bumetanide‐resistant K+ influx produced a shallow slope, above and parallel to the control curve. These features were consistent with the diagnosis of DHS. The pronounced hepatosiderosis contrasted with the mildly expressed DHS, and with the ferritinaemia that was slightly elevated, if at all, prior to bleeding. Bleeding caused ferritinaemia to decrease and hepatosiderosis to recede. The whole picture accounts for a misleading presentation of DHS, in which the primary condition long remained hidden behind one of its remotest complications, hepatosiderosis.Keywords
This publication has 18 references indexed in Scilit:
- Two new human DMT1 gene mutations in a patient with microcytic anemia, low ferritinemia, and liver iron overloadBlood, 2006
- Microcytic anemia and hepatic iron overload in a child with compound heterozygous mutations in DMT1 (SCL11A2)Blood, 2006
- Four new cases of stomatin‐deficient hereditary stomatocytosis syndrome: association of the stomatin‐deficient cryohydrocytosis variant with neurological dysfunctionBritish Journal of Haematology, 2004
- Molecular analyses of patients with hyperferritinemia and normal serum iron values reveal both L ferritin IRE and 3 new ferroportin (slc11A3) mutationsBlood, 2003
- Sub-lethal hydrops as a manifestation of dehydrated hereditary stomatocytosis in two consecutive pregnanciesPrenatal Diagnosis, 2003
- Dehydrated hereditary stomatocytosis: a cause of prenatal ascitesPrenatal Diagnosis, 2001
- The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22Nature Genetics, 2000
- Genomewide Search for Dehydrated Hereditary Stomatocytosis (Hereditary Xerocytosis): Mapping of Locus to Chromosome 16 (16q23-qter)American Journal of Human Genetics, 1998
- The Significance of the 187G (H63D) Mutation in HemochromatosisAmerican Journal of Human Genetics, 1997
- MEASUREMENT OF LIVER-IRON CONCENTRATION IN NEEDLE-BIOPSY SPECIMENSThe Lancet, 1971